TIMM8A

translocase of inner mitochondrial membrane 8A
OMIM: 300356, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green TIMM8A in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700
Amber TIMM8A in Optic Atrophy Level 2: Ophthalmological disorders Version 1.32 Component of the following Super Panels: Retinal Disorders Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome (MIM#304700)
Green TIMM8A in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green TIMM8A in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TIMM8A in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700
Red TIMM8A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Mohr-Tranebjaerg syndrome OMIM #304700
Green TIMM8A in Dystonia - complex Level 2: Neurology and neurodevelopmental disorders Version 0.235 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Deafness-Dystonia-Optic Neuronopathy Syndrome Mohr-Tranebjaerg syndrome, MIM# 304700
Green TIMM8A in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	Unknown	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services
Green TIMM8A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Jensen syndrome, 311150 (3)
Green TIMM8A in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.63	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700
Green TIMM8A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mohr-Tranebjaerg syndrome
Green TIMM8A in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700 Syndromic auditory neuropathy spectrum disorder
Red TIMM8A in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Expert list Phenotypes Mohr-Tranebjaerg syndrome, MIM# 304700
Green TIMM8A in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Jensen syndrome, 311150 (3)
Red TIMM8A in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Mohr-Tranebjaerg syndrome MIM#304700